CMT4A: Identification of a HispanicGDAP1 founder mutation-Reference-Cited by-同舟云学术

CMT4A: Identification of a HispanicGDAP1 founder mutation

Published:2003-02-24 Issue:3 Volume:53 Page:400-405
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Boerkoel Cornelius F.,Takashima Hiroshi,Nakagawa Masanori,Izumo Shuji,Armstrong Dawna,Butler Ian,Mancias Pedro,Papasozomenos Sozos C. H.,Stern Lawrence Z.,Lupski James R.

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference22 articles.

1. Hereditary motor and sensory neuropathies. In: eds. Emery and Rimoin's principles and practice of medical genetics. London: Harcourt Press, 2002: 3303-3320.

2. The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

3. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

4. Isolation of 10 Differentially Expressed cDNAs in Differentiated Neuro2a Cells Induced Through Controlled Expression of the GD3 Synthase Gene

5. Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy

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